摘要:

From an analysis of published sibships containing at least one subject with Huntington's disease, evidence was obtained from segregation ratios derived from several hypothetical modes of ascertainment that single‐membered sibships are less likely to be recorded than those containing at least two affectcd persons and that the probability of reporting a sibship is proportional to the number of affected siblings.Familial sex‐limitation and partial sex‐linkage could not be detected in the sample. Investigation of parental and grandparcntal lines ol transmission revealed that patrilineal descent predominated for all subjccts except unaffected daughters. Mcan ages at onset and death wcrc independent of the 5ex of the subject or the tranymitting parent. On the other hand, the offspring of affected males suffered from the disorder for a shorter period of time than offspring of affccted females. Ages at onsct and death varied significantly from generation to generation, presumably because parents are ofren ascertained through their children in the literature and the phenomenon of anticipation thereby arises. Onset age was earlier in members of small sihships than in those of large sibships. This could be related to the earlier onset age of parents producing small families compared with those producing large fam

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00288.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

To determine whether the age at onset and age at death were related to the type of initial symptoms of Huntington's disease, analyses of variance with respect to (A) order of appearance of neurological and psychiatric symptoms, (B) type of muscular disorder (chorea or rigidity), (C) sex of affcctcd subject, (D) sex of transmitting parent, and (E) sex of transmitting grandparent were calculated. Agc at onset and age at death were each significantly affected by order of symptoms, neurological sign, sex of subject, and sex of affected parent. The duration of illness depended only on the order of neurological and psychiatric symptoms.Fathcrs exceeded mothers as transmitting parents of sibships with one or more affected subjects. The proportions of the four parental‐grandparental lines of transmission differed significantly among subjects grouped according to type of first symptoms but not according to muscular signs. The ratio of choreic to rigid cases varied significantly with the order of symptoms and sex of the subject.The earlier ages at onset and death of subjects with Westphal (rigid‐hypokinetic) symptoms than those with typical choreic movements confirm the validity of distinguishing between these variants of the disor

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00289.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

A variant band in the C 3 system has been found in four members of onc Norwcgian family. By direct comparison the band was found lo migrate anodally to all earlier describcd C 3 bands on high voltage agarose gel electrophoresis. It is highly probable that the band represents a new allele at the C 3 locus, C 3F1.2.The C 3 content of all variant‐containing sera of the family was found to be norma

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00290.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

A genetics program library (Morton 1969a) was used to study the problem of discrimination between different modes of inheritance in genetic disease. Data were generated on familial frequencies and on the distribution of affected sibships by a two‐allele single‐locus model and the goodness of fit was tested hy a multifactorial model to the data and vice versa.The singlelocus model is very flexible and can f i t multifactonal data well except when the frequency is very low and the heritability is high. The multifactorial model gives a poor fit in simple Mendelian‐like situations, but the fit improves as the parameters of the singlelocus model become less Mendelian. In general it will be difficult to discriminate between models of inheritance with the types of data and forms of analyses studied. Even segregation analysis does not seem critical in discrimination, but ra!her serves to confirm the results derived from the familial frequency data. In practice, with sampling errors, ascertainment biases, mortality, variable onset age, heterogeneity, and many other complicating factors, discrimination between different modes of inheritance is likely to be very difficult i

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00291.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY

摘要:

Monthly variations in the incidence of births of 441 patients with Down's syndrome, 317 patients with Klinefelter's syndrome, and 126 patients with Turner's syndrome were studied. These three chromosomal aberrations showed almost identical seasonal variation with two maxima, a greater maximum in the period February to May and a smaller one in September. These fluctuations synchronous with those of the “normal” birth curve, but have a greater amplitude. To explain the variations, the following hypothesis is proposed: Seasonal fluctuations in the “normal” conception curve are caused by two basic oestric patterns, of which a phylogenetically younger (polyoestrus) is superimposed upon the phylogenetically older one (mono‐ or dioestrus). The latter is influenced by climatologic factors. The seasonal fluctuations in the “normal” conception curve can be explained by alternating periods of normal, i.e. ovulatory, and of disturbed, i.e. anovulatory, cycles. The increase of “pathological conceptions” during spring and autumn and the crease during winter and summer are caused by interference of the two basic oestric patterns. Such interference might retard the preovulatory or intrafollicular ripening of the egg cell, resulting in overripeness ovopathy. In addition, spermatopathy, too, could be influenced by climatalogic factors. Birth curves of parents of patients with Down's syndrome may suggest a constitutional factor, predisposing to “path

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1971.tb00292.x

出版商:Blackwell Publishing Ltd    

年代:1971

数据来源: WILEY